Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology
3 years ago

Loss-of-function mutations in filaggrin gene and malignant melanoma: a case control study

P. B. Szecsi, J. Kaae, A. Linneberg, S. Stender, J. P. Thyssen, L. Skov, Y. M. F. Andersen, E. Balslev
Background Loss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of epidermal filaggrin and its degradation products, urocanic acid, which may be protective against ultraviolet irradiation. Objective We aimed to investigate the association between FLG mutation status and the occurrence of malignant melanoma (MM) in Danish adults. Methods The prevalence of FLG mutations in a sample of MM biopsies was compared with a FLG genotyped cohort from two general population studies. Pearson's chi-square and Fisher's exact tests were used to compare the two groups. Results A total of 867 MM biopsies and 9965 general population controls were genotyped, respectively. In the MM sample 2 (0.23%) individuals were homozygous and 80 (9.4%) heterozygous mutation carriers. In the general population controls the prevalence of FLG mutations was 18 (0.18%) and 835 (8.4%) for homozygous and heterozygous mutations, respectively. Fisher's exact test and Pearson's chi square test yielded non-significant p-values when the groups were compared. Conclusion FLG mutation was not associated with MM in the studied populations. This finding indicates that epidermal deficiency of filaggrin and its degradation products do not influence the risk of MM significantly. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/jdv.14532

You might also like
Discover & Discuss Important Research

Keeping up-to-date with research can feel impossible, with papers being published faster than you'll ever be able to read them. That's where Researcher comes in: we're simplifying discovery and making important discussions happen. With over 19,000 sources, including peer-reviewed journals, preprints, blogs, universities, podcasts and Live events across 10 research areas, you'll never miss what's important to you. It's like social media, but better. Oh, and we should mention - it's free.

  • Download from Google Play
  • Download from App Store
  • Download from AppInChina

Researcher displays publicly available abstracts and doesn’t host any full article content. If the content is open access, we will direct clicks from the abstracts to the publisher website and display the PDF copy on our platform. Clicks to view the full text will be directed to the publisher website, where only users with subscriptions or access through their institution are able to view the full article.